Varaico: Literature-Extracted Genetic Variants

FERMT1

196 papers

RefSeq Summary

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskele...

Pfam Domains

Kindlin_2_Naa 7–95UCSCKindlin-2 N-terminal domain

FERM_Maa 279–419UCSCFERM central domain

PHaa 374–473UCSCPH domain

FERM_Maa 445–570UCSCFERM central domain

Gene Aliases

HGNC Name

FERM domain containing kindlin 1

HGNC Previous Symbol

C20orf42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_017671.5

p.Q332delFs

c.994_995delTG

Surrounding Variants

1 paper

NM_017671.5

p.E330V

c.989A>T

1 paper

NM_017671.5

p.L327V

c.979T>G

2 papers

NM_017671.5

p.S326P

c.976T>C

15 papers

NM_017671.5

p.Q319_Y320Splc

c.958-1G>A

4 papers

NM_017671.5

p.E351*

c.1051G>T

2 papers

NM_017671.5

p.L363fs

c.1087_1088fs

1 paper

NM_017671.5

p.L363fs

c.1087_1088fs

2 papers

NM_017671.5

p.L363delFs

c.1088delA

12 papers

NM_017671.5

p.L363delFs

c.1089delC

2 papers

NM_017671.5

p.Q319_Y320Splc

c.957+1G>A

1 paper

NM_017671.5

p.L318Q

c.953T>A

1 paper

NM_017671.5

p.M312K

c.935T>A